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Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.
- Source :
-
Neuromuscular disorders : NMD [Neuromuscul Disord] 2011 Aug; Vol. 21 (8), pp. 556-62. Date of Electronic Publication: 2011 Jul 02. - Publication Year :
- 2011
-
Abstract
- Mutations in the nebulin gene are the main cause of autosomal recessive nemaline myopathy, with clinical presentations ranging from mild to severe disease. We have previously reported a nonspecific distal myopathy caused by homozygous missense mutations in the nebulin gene in six Finnish patients from four different families. Here we describe three non-Finnish patients in two unrelated families with distal nemaline myopathy caused by four different compound heterozygous nebulin mutations, only one of which is a missense mutation. One of the mutations has previously been identified in one family with the severe form of nemaline myopathy. We conclude that nemaline myopathy and distal myopathy caused by nebulin mutations form a clinical and histological continuum. Nemaline myopathy should be considered as a differential diagnosis in patients presenting with an early-onset predominantly distal myopathy.<br /> (Copyright © 2011 Elsevier B.V. All rights reserved.)
- Subjects :
- Adolescent
Biopsy
Child
Diagnosis, Differential
Distal Myopathies pathology
Female
France
Humans
Hungary
Male
Middle Aged
Muscle, Skeletal pathology
Myopathies, Nemaline pathology
Distal Myopathies diagnosis
Muscle Proteins genetics
Mutation genetics
Myopathies, Nemaline diagnosis
Myopathies, Nemaline genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1873-2364
- Volume :
- 21
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- Neuromuscular disorders : NMD
- Publication Type :
- Academic Journal
- Accession number :
- 21724397
- Full Text :
- https://doi.org/10.1016/j.nmd.2011.05.012