Journal article
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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Authors
Bibliographic Details
- 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
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
1092880
- Local pid:
- pubs:1092880
- Deposit date:
- 2020-03-12
Terms of use
- Copyright holder:
- Elsevier B.V.
- Copyright date:
- 2016
- Rights statement:
- © 2016 Elsevier B.V.
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