Limb Girdle Muscular Dystrophy Type 2A - Brossura

Khan, Muhammad Jaseem; Yasinzai, Muhammad Masoom

 
9783659478314: Limb Girdle Muscular Dystrophy Type 2A
Brossura
ISBN 10: 3659478318 ISBN 13: 9783659478314
Casa editrice: LAP LAMBERT Academic Publishing, 2013

Sinossi

ABSTRACT Limb girdle muscular dystrophy (LGMD) is a heterogeneous genetically determined group of skeletal muscle disorders. Among the 24 reported subtypes of LGMD, limb- girdle muscular dystrophy type 2A (LGMD2A) is caused by mutations in the calpain 3 (CAPN3) gene. In Pakistan, consanguineous marriages are common due to social, ethnic and traditional customs which is a leading cause of calpainopathy. In the present study, two families (A, B) showing clinically distinct autosomal recessive limb girdle muscular dystrophy type 2A were evaluated genetically. Any other abnormality was not observed in both families. Technique of homozygosity mapping was used to track the gene responsible for autosomal recessive LGMD2A in both families. In homozygosity mapping with polymorphic microsatellite markers, linkage in family A and B with LGMD2A was established to CAPN3 gene on chromosome 15q15.1-q21.1. Subsequently, sequence analysis of all 24 exons of CAPN3 was performed but no disease causing DNA sequence variant was found in these exons suggesting the presence of mutation in the regulatory sequences or any other genes present in this region.

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Informazioni sull?autore

Muhammad Jaseem Khan (PhD scholar)B.Sc Medical Laboratory Technology(MLT),University of Punjab, PakistanM.Sc Biochemistry, Arid Agricultural University RawalpindiM.Phil Biotechnology (Human Genetics)Quaid I Azam University Islamabad, PakistanLecturer of MLT, Institute of Paramedical Sciences, Khyber Medical University Peshawar, Pakistan

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Editore
LAP LAMBERT Academic Publishing
Data di pubblicazione
2013
Lingua
Inglese
ISBN 10 
3659478318
ISBN 13 
9783659478314
Rilegatura
Copertina flessibile
Numero di pagine
64
Contatto del produttore
non disponibile
Persona responsabile
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