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ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.

Abstract:

Limb girdle muscular dystrophy type 2L or anoctaminopathy is a condition mainly characterized by adult onset proximal lower limb muscular weakness and raised CK values, due to recessive ANO5 gene mutations. An exon 5 founder mutation (c.191dupA) has been identified in most of the British and German LGMD2L patients so far reported. We aimed to further investigate the prevalence and spectrum of ANO5 gene mutations and related clinical phenotypes, by screening 205 undiagnosed patients referred t...

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Publication status:
Published

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Publisher copy:
10.1002/humu.22342

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Journal:
Human mutation
Volume:
34
Issue:
8
Pages:
1111-1118
Publication date:
2013-08-05
DOI:
EISSN:
1098-1004
ISSN:
1059-7794
URN:
uuid:d0c3030f-f428-44ad-a921-ae6030fa9c23
Source identifiers:
395993
Local pid:
pubs:395993

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