scholarly journals A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

Brain ◽  
2010 ◽  
Vol 134 (1) ◽  
pp. 171-182 ◽  
Author(s):  
D. Hicks ◽  
A. Sarkozy ◽  
N. Muelas ◽  
K. Koehler ◽  
A. Huebner ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Founder Mutation ◽  
Limb Girdle Muscular Dystrophy

scholarly journals A slowly progressive form of limb‐girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics

2015 ◽  
Vol 3 (2) ◽  
pp. 92-98 ◽  
Author(s):  
Samiah A. Al‐Zaidy ◽  
Vinod Malik ◽  
Kelley Kneile ◽  
Xiomara Q. Rosales ◽  
Ana Maria Gomez ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Puerto Rican ◽  
Founder Mutation ◽  
Limb Girdle Muscular Dystrophy ◽  
Progressive Form

scholarly journals Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the γ-sarcoglycan gene

1998 ◽  
Vol 6 (4) ◽  
pp. 396-399 ◽  
Author(s):  
Adriana Lasa ◽  
Federica Piccolo ◽  
Carles de Diego ◽  
Marc Jeanpierre ◽  
Jaume Colomer ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Founder Mutation ◽  
Limb Girdle Muscular Dystrophy

scholarly journals Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene

2018 ◽  
Vol 2018 ◽  
pp. 1-10 ◽  
Author(s):  
Zhiying Xie ◽  
Jiangxi Xiao ◽  
Yiming Zheng ◽  
Zhaoxia Wang ◽  
Yun Yuan
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Muscle Tissue ◽  
Founder Mutation ◽  
Fatty Infiltration ◽  
Limb Girdle Muscular Dystrophy ◽  
Resonance Imaging ◽  
Thigh Muscles ◽  
Vastus Intermedius

Limb girdle muscular dystrophy type 2I (LGMD2I) is an autosomal recessive muscular dystrophy that is rare in Asia and is caused by mutations in the fukutin-related protein gene (FKRP). The aim of this study was to determine if there are any characteristic features of muscle on magnetic resonance imaging (MRI) in patients with LGMD2I harboring the founder mutation c.545A>G in FKRP. Using MRI, we delineated changes in the thigh muscles of ten patients with genetically confirmed LGMD2I. The majority of muscle biopsy specimens showed reduced glycosylation of α-dystroglycan, decreased expression of laminin α2, and a dystrophic pattern. In our cohort, the muscles with the most severe fatty infiltration were adductor magnus and vastus intermedius, whereas the rectus femoris, sartorius, and gracilis muscles were relatively spared. In seven patients, we identified a concentric fatty infiltration pattern that was most pronounced in the vastus intermedius and vastus medialis muscles around the distal femoral diaphysis. In this disease, the initial fatty infiltration of the posterior thigh muscles gradually progresses anteriorly regardless of the founder mutation in FKRP. Muscle tissue in patients with LGMD2I who have the founder mutation c.545A>G in FKRP shows a distinctive concentric pattern of fatty infiltration and edema on MRI.

P63 A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

2011 ◽  
Vol 21 ◽  
pp. S24-S25
Author(s):  
P. Hicks ◽  
A. Sarkozy ◽  
N. Muelas ◽  
K. Koehler ◽  
A. Huebner ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Founder Mutation ◽  
Limb Girdle Muscular Dystrophy
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