An unusual variant of Becker muscular dystrophy

M. de Visser; E. Bakker; J. C. Defesche; P. A. Bolhuis; G. J. van Ommen

doi:https://doi.org/10.1002/ana.410270521

An unusual variant of Becker muscular dystrophy

M. de Visser, E. Bakker, J. C. Defesche, P. A. Bolhuis, G. J. van Ommen

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Research output: Contribution to journal › Comment/Letter to the editor › Academic

19 Citations (Scopus)

Abstract

We report on 5 brothers with slowly progressive limbgirdle weakness. Calf hypertrophy was absent. The levels of creatine kinase, electromyography, and findings from a muscle biopsy specimen were compatible with muscular dystrophy. The propositus's biopsy specimen also showed numerous rimmed vacuoles. DNA analysis revealed a deletion in the dystrophin gene, establishing a diagnosis of Becker muscular dystrophy. Both the absence of calf hypertrophy and the presence of rimmed vacuoles are unusual features in this disorder

Original language	English
Pages (from-to)	578-581
Journal	Annals of neurology
Volume	27
Issue number	5
DOIs	https://doi.org/10.1002/ana.410270521
Publication status	Published - 1990

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https://doi.org/10.1002/ana.410270521

Cite this

@article{a633a8cebff247b290a2925219e6adc0,

title = "An unusual variant of Becker muscular dystrophy",

abstract = "We report on 5 brothers with slowly progressive limbgirdle weakness. Calf hypertrophy was absent. The levels of creatine kinase, electromyography, and findings from a muscle biopsy specimen were compatible with muscular dystrophy. The propositus's biopsy specimen also showed numerous rimmed vacuoles. DNA analysis revealed a deletion in the dystrophin gene, establishing a diagnosis of Becker muscular dystrophy. Both the absence of calf hypertrophy and the presence of rimmed vacuoles are unusual features in this disorder",

author = "{de Visser}, M. and E. Bakker and Defesche, {J. C.} and Bolhuis, {P. A.} and {van Ommen}, {G. J.}",

year = "1990",

doi = "https://doi.org/10.1002/ana.410270521",

language = "English",

volume = "27",

pages = "578--581",

journal = "Annals of neurology",

issn = "0364-5134",

publisher = "John Wiley and Sons Inc.",

number = "5",

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TY - JOUR

T1 - An unusual variant of Becker muscular dystrophy

AU - de Visser, M.

AU - Bakker, E.

AU - Defesche, J. C.

AU - Bolhuis, P. A.

AU - van Ommen, G. J.

PY - 1990

Y1 - 1990

N2 - We report on 5 brothers with slowly progressive limbgirdle weakness. Calf hypertrophy was absent. The levels of creatine kinase, electromyography, and findings from a muscle biopsy specimen were compatible with muscular dystrophy. The propositus's biopsy specimen also showed numerous rimmed vacuoles. DNA analysis revealed a deletion in the dystrophin gene, establishing a diagnosis of Becker muscular dystrophy. Both the absence of calf hypertrophy and the presence of rimmed vacuoles are unusual features in this disorder

AB - We report on 5 brothers with slowly progressive limbgirdle weakness. Calf hypertrophy was absent. The levels of creatine kinase, electromyography, and findings from a muscle biopsy specimen were compatible with muscular dystrophy. The propositus's biopsy specimen also showed numerous rimmed vacuoles. DNA analysis revealed a deletion in the dystrophin gene, establishing a diagnosis of Becker muscular dystrophy. Both the absence of calf hypertrophy and the presence of rimmed vacuoles are unusual features in this disorder

U2 - https://doi.org/10.1002/ana.410270521

DO - https://doi.org/10.1002/ana.410270521

M3 - Comment/Letter to the editor

C2 - 2193611

SN - 0364-5134

VL - 27

SP - 578

EP - 581

JO - Annals of neurology

JF - Annals of neurology

IS - 5

ER -