Adolescent spinal muscular atrophy with calf hypertrophy and a deletion in the SMN gene.

Abstract:

:Spinal muscular atrophy (SMA) is generally associated with proximal weakness and muscle wasting. An X-linked variant with calf hypertrophy has been reported. We describe a young man with SMA type 4 with prominent calf hypertrophy in whom DNA analysis showed a homozygous deletion of exons 7 and 8 in the telomeric copy of the survival motor neuron gene. Calf hypertrophy may be seen uncommonly in autosomally inherited SMA.

journal_name

Muscle Nerve

journal_title

Muscle & nerve

authors

Yiu EM,Ravat S,Ryan MM,Shield LK,Smith LJ,Kornberg AJ

doi

10.1002/mus.21013

subject

Has Abstract

pub_date

2008-07-01 00:00:00

pages

930-2

issue

1

eissn

0148-639X

issn

1097-4598

journal_volume

38

pub_type

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