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Journal article

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

Abstract:

The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive disorders presenting in infancy with muscle weakness, contractures, and dystrophic changes on skeletal-muscle biopsy. Structural brain defects, with or without mental retardation, are additional features of several CMD syndromes. Approximately 40% of patients with CMD have a primary deficiency (MDC1A) of the laminin alpha2 chain of merosin (laminin-2) due to mutations in the LAMA2 gene. In addition, a s...

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Publication status:
Published

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Publisher copy:
10.1086/324412

Authors


Brockington, M More by this author
Prandini, P More by this author
Torelli, S More by this author
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Journal:
American journal of human genetics
Volume:
69
Issue:
6
Pages:
1198-1209
Publication date:
2001-12-05
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:c3842344-a42a-4171-81ba-a5f29cc8f645
Source identifiers:
237978
Local pid:
pubs:237978

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