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  1. Article: Myotubular/centronuclear myopathy and central core disease.

    Fujimura-Kiyono, Chieko / Racz, Gabor Z / Nishino, Ichizo

    Neurology India

    2008  Volume 56, Issue 3, Page(s) 325–332

    Abstract: The term congenital myopathy is applied to muscle disorders presenting with generalized muscle weakness and hypotonia from early infancy with delayed developmental milestones. The congenital myopathies have been classified into various categories based ... ...

    Abstract The term congenital myopathy is applied to muscle disorders presenting with generalized muscle weakness and hypotonia from early infancy with delayed developmental milestones. The congenital myopathies have been classified into various categories based on morphological findings on muscle biopsy. Although the clinical symptoms may seem homogenous, the genetic basis is remarkably variable. This review will focus on myotubular myopathy, centronuclear myopathy, central core disease, and congenital neuromuscular disease with uniform Type 1 fiber, myopathies that are subjects of our ongoing examinations.
    MeSH term(s) Humans ; Muscle Fibers, Skeletal/pathology ; Myopathies, Structural, Congenital/genetics ; Myopathies, Structural, Congenital/pathology ; Myopathies, Structural, Congenital/physiopathology ; Myopathy, Central Core/genetics ; Myopathy, Central Core/pathology ; Myopathy, Central Core/physiopathology
    Language English
    Publishing date 2008-10-28
    Publishing country India
    Document type Journal Article ; Review
    ZDB-ID 415522-1
    ISSN 1998-4022 ; 0028-3886
    ISSN (online) 1998-4022
    ISSN 0028-3886
    DOI 10.4103/0028-3886.43451
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Myotubular/centronuclear myopathy and central core disease

    Fujimura-Kiyono Chieko / Racz Gabor / Nishino Ichizo

    Neurology India, Vol 56, Iss 3, Pp 325-

    2008  Volume 332

    Abstract: The term congenital myopathy is applied to muscle disorders presenting with generalized muscle weakness and hypotonia from early infancy with delayed developmental milestones. The congenital myopathies have been classified into various categories based ... ...

    Abstract The term congenital myopathy is applied to muscle disorders presenting with generalized muscle weakness and hypotonia from early infancy with delayed developmental milestones. The congenital myopathies have been classified into various categories based on morphological findings on muscle biopsy. Although the clinical symptoms may seem homogenous, the genetic basis is remarkably variable. This review will focus on myotubular myopathy, centronuclear myopathy, central core disease, and congenital neuromuscular disease with uniform Type 1 fiber, myopathies that are subjects of our ongoing examinations.
    Keywords Central core disease ; centronuclear myopathy ; congenital myopathy ; congenital neuromuscular disease with uniform Type 1 fibers ; myotubular myopathy ; Neurology. Diseases of the nervous system ; RC346-429 ; Neurosciences. Biological psychiatry. Neuropsychiatry ; RC321-571 ; Internal medicine ; RC31-1245 ; Medicine ; R ; DOAJ:Neurology ; DOAJ:Medicine (General) ; DOAJ:Health Sciences
    Subject code 610
    Language English
    Publishing date 2008-01-01T00:00:00Z
    Publisher Medknow Publications
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  3. Article ; Online: Onset and spreading patterns of lower motor neuron involvements predict survival in sporadic amyotrophic lateral sclerosis.

    Fujimura-Kiyono, Chieko / Kimura, Fumiharu / Ishida, Simon / Nakajima, Hideto / Hosokawa, Takafumi / Sugino, Masakazu / Hanafusa, Toshiaki

    Journal of neurology, neurosurgery, and psychiatry

    2011  Volume 82, Issue 11, Page(s) 1244–1249

    Abstract: Objective: To define patterns of spread through the order of lower motor neuron involvement (first, second or third order), relationships between interval or sites of affected areas from onset to involvement of a second region, and prognosis, including ... ...

    Abstract Objective: To define patterns of spread through the order of lower motor neuron involvement (first, second or third order), relationships between interval or sites of affected areas from onset to involvement of a second region, and prognosis, including 5 year survival, normal preservation of motor function at onset of respiratory symptoms and cumulative occurrence of each region and direction of spread.
    Method: 150 patients with sporadic amyotrophic lateral sclerosis (ALS) underwent follow-up at 3 month intervals until the appearance of respiratory symptoms. Symptom appearances were determined using the revised version of the ALS Functional Rating Scale.
    Result: Median survival with combined type onset (two regions simultaneously) was shorter (18 months) than with bulbar onset (26 months, p=0.01). The interval from onset to involvement of the second region correlated significantly with survival, independent of particular combinations. 5 year survival rate was 21% for lower limb onset, 18% for upper limb onset and 16% for bulbar onset. No patient with a rapid spread pattern (two regions within 3 months from onset) survived >5 years. Early manifestations of bulbar symptoms within 1 year were associated with worse survival (p<0.001) although no significant difference in survival was seen between groups with and without bulbar symptoms (p=0.51). In terms of cumulative occurrence, symptoms spread longitudinally to adjacent regions. Bulbar function remained preserved in 27%, lower limb function in 10% and upper limb function in 2.7%.
    Conclusion: The interval between onset and involvement of the second region is an important predictor of survival. The data support the contiguous anatomical propagation of lower motor neuron involvement in sporadic ALS.
    MeSH term(s) Age of Onset ; Aged ; Amyotrophic Lateral Sclerosis/diagnosis ; Amyotrophic Lateral Sclerosis/mortality ; Amyotrophic Lateral Sclerosis/physiopathology ; Disease Progression ; Female ; Humans ; Male ; Middle Aged ; Motor Neurons/pathology ; Prognosis ; Regression Analysis ; Survival Rate ; Time Factors ; Treatment Outcome
    Language English
    Publishing date 2011-11
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 3087-9
    ISSN 1468-330X ; 0022-3050
    ISSN (online) 1468-330X
    ISSN 0022-3050
    DOI 10.1136/jnnp-2011-300141
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2.

    Mori-Yoshimura, Madoka / Okuma, Aya / Oya, Yasushi / Fujimura-Kiyono, Chieko / Nakajima, Hideto / Matsuura, Keita / Takemura, Aya / Malicdan, May Christine V / Hayashi, Yukiko K / Nonaka, Ikuya / Murata, Miho / Nishino, Ichizo

    Clinical neurology and neurosurgery

    2012  Volume 114, Issue 6, Page(s) 678–683

    Abstract: Background: Missense mutations in dynamin 2 gene (DNM2) are associated with autosomal dominant centronuclear myopathy (CNM) with characteristic histopathological findings of centrally located myonuclei in a large number of muscle fibers.: Methods: To ...

    Abstract Background: Missense mutations in dynamin 2 gene (DNM2) are associated with autosomal dominant centronuclear myopathy (CNM) with characteristic histopathological findings of centrally located myonuclei in a large number of muscle fibers.
    Methods: To identify Japanese CNM caused by DNM2 mutations (DNM2-CNM), we sequenced DNM2 in 22 unrelated Japanese patients who were pathologically diagnosed with CNM. The clinical and pathological findings of DNM2-CNM in patients were reviewed.
    Results: We identified 3 different heterozygous missense mutations (p.E368K, p.R369W, and p.R465W) in 4 probands from 4 families. Clinically, calf muscle atrophy and pes cavus are features that are highly suggestive of DNM2-CNM among all CNMs. Pathologically, all 4 DNM2-CNM patients showed a radial distribution of myofibrils in scattered fibers, type 1 fiber atrophy, type 1 fiber predominance, and type 2C fibers. None of the non-DNM2-CNM patients exhibited all the 4 abovementioned pathological features, although some patients showed radial distribution without type 1 fiber atrophy and/or type 2C fibers.
    Discussion: These results indicate that the clinicopathological features of DNM2-CNM are rather homogeneous and can be distinguished from the features of non-DNM2-CNM.
    MeSH term(s) Adolescent ; Adult ; Atrophy ; Autopsy ; Dynamin II/genetics ; Electromyography ; Female ; Gait Disorders, Neurologic/etiology ; Humans ; Japan ; Male ; Middle Aged ; Muscle Weakness/etiology ; Muscle, Skeletal/pathology ; Mutation/physiology ; Myopathies, Structural, Congenital/genetics ; Myopathies, Structural, Congenital/pathology ; Neural Conduction ; Pedigree ; Polymerase Chain Reaction ; Retrospective Studies ; Sequence Analysis, DNA ; Young Adult
    Chemical Substances Dynamin II (EC 3.6.5.5)
    Language English
    Publishing date 2012-07
    Publishing country Netherlands
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 193107-6
    ISSN 1872-6968 ; 0303-8467
    ISSN (online) 1872-6968
    ISSN 0303-8467
    DOI 10.1016/j.clineuro.2011.10.040
    Database MEDical Literature Analysis and Retrieval System OnLINE

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