We have located links that may give you full text access.
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy.
Muscle & Nerve 2012 May
INTRODUCTION: Mutations in the anoctamin 5 gene (ANO5) have been recently identified.They cause limb girdle muscular dystrophy (LGMD2L) and Miyoshi muscular dystrophy.
METHODS: Clinical findings of four unrelated patients are reviewed. Mutation detection was performed by direct sequencing of the ANO5 exons.
RESULTS: We identified four novel mutations in the ANO5 gene. In one patient, a novel homozygous mutation (c.1965G>C). In three patients, the recurrent heterozygous exon 5 c.191dupA mutation is combined with other variants to form a compound heterozygous state: in two cases, novel splice site mutations in intron 5 (c.295-1G>A) and in intron 14 (c.1407+5G>A), and in one case, a novel missense mutation in exon 4 (c.172C>T).
CONCLUSIONS: The cases reported here should help to better understand the important role of mutation screening in the ANO5 gene in patients with adult onset muscular dystrophy and very high CK levels.
METHODS: Clinical findings of four unrelated patients are reviewed. Mutation detection was performed by direct sequencing of the ANO5 exons.
RESULTS: We identified four novel mutations in the ANO5 gene. In one patient, a novel homozygous mutation (c.1965G>C). In three patients, the recurrent heterozygous exon 5 c.191dupA mutation is combined with other variants to form a compound heterozygous state: in two cases, novel splice site mutations in intron 5 (c.295-1G>A) and in intron 14 (c.1407+5G>A), and in one case, a novel missense mutation in exon 4 (c.172C>T).
CONCLUSIONS: The cases reported here should help to better understand the important role of mutation screening in the ANO5 gene in patients with adult onset muscular dystrophy and very high CK levels.
Full text links
Related Resources
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app