Open AccessGenotype-phenotype correlation of the childhood-onset bethlem myopathy in the mediterranean region of Turkey
Author(s) -
Muhammet Gültekin Kutluk,
Naz Kadem,
Ömer Bektaş,
Nadide Cemre Randa,
Gökçen Öz Tunçer,
Pelin Albayrak,
Tuba Eminoğlu,
Serap Teber
Publication year - 2021
Publication title -
annals of indian academy of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.427
H-Index - 31
eISSN - 1998-3549
pISSN - 0972-2327
DOI - 10.4103/aian.aian_1182_20
Subject(s) - collagen vi , muscle contracture , myopathy , medicine , pathology , muscular dystrophy , phenotype , proximal muscle weakness , congenital myopathy , muscle biopsy , extracellular matrix , anatomy , genetics , biology , biopsy , gene
Collagen-VI-related myopathies are caused by both dominant and recessive mutations in the three collagen-VI-related genes (COL6A1, COL6A2, and COL6A3) and present as two different major clinical entities; Bethlem myopathy and Ullrich congenital muscular dystrophy.