A new phenotype of dysferlinopathy with congenital onset
Abstract We report two patients with a new phenotype of dysferlinopathy presenting as congenital muscular disease. Both patients showed weakness in proximal lower limbs and neck flexor muscles at birth. The presence of normal CK levels during the first years should be noted. Initial MRI showed no ab...
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Published in | Neuromuscular disorders : NMD Vol. 19; no. 1; pp. 21 - 25 |
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Main Authors | , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
England
Elsevier B.V
01.01.2009
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Subjects | |
Online Access | Get full text |
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Summary: | Abstract We report two patients with a new phenotype of dysferlinopathy presenting as congenital muscular disease. Both patients showed weakness in proximal lower limbs and neck flexor muscles at birth. The presence of normal CK levels during the first years should be noted. Initial MRI showed no abnormalities but short-time-inversion-recovery (STIR) sequences revealed a striking myoedema in gastrocnemius and hamstring muscles at the age of 5. Muscle biopsy showed mild dystrophic features and the absence of dysferlin. Dysferlin gene ( DYSF ) analysis revealed a p.Ala927LeufsX21 mutation in a homozygous state in both siblings. This new phenotype widens the clinical spectrum of dysferlin myopathies. |
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Bibliography: | ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 ObjectType-Article-2 ObjectType-Feature-1 |
ISSN: | 0960-8966 1873-2364 |
DOI: | 10.1016/j.nmd.2008.09.015 |