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Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8)

Abstract:

Nemaline myopathies are clinically and genetically heterogeneous muscle diseases characterized by the presence of nemaline bodies (rods) in muscle fibers. Mutations in the KLHL40 (kelch-like family member 40) gene (NEM 8) are common cause of severe/lethal nemaline myopathy. We report an 8-year-old girl born to consanguineous Moroccan parents, who presented with hypotonia and poor sucking at birth, delayed motor development, and further mild difficulties in walking and fatigability. A muscle b...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1016/j.nmd.2016.07.011

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Publisher:
Elsevier Publisher's website
Journal:
Neuromuscular Disorders Journal website
Volume:
26
Issue:
10
Pages:
712-716
Publication date:
2016-07-29
Acceptance date:
2016-07-25
DOI:
EISSN:
1873-2364
ISSN:
0960-8966
Pmid:
27528495
Language:
English
Keywords:
Pubs id:
1092880
Local pid:
pubs:1092880
Deposit date:
2020-03-12

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