A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report
نویسندگان
چکیده
منابع مشابه
Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant
Ullrich congenital muscular dystrophy (UCMD) is characterized by congenital weakness, proximal joint contractures, and hyperlaxity of distal joints. UCMD is basically due to a defect in extra cellular matrix protein, collagen type VI. A 37-year-old woman who cannot walk independently visited our outpatient clinic. She had orthopedic deformities (scoliosis, joint contractures, and distal joint h...
متن کاملullrich congenital muscular dystrophy
objective ullrich congenital muscular dystrophy is a rather severe type of congenital muscular dystrophy with early onset features related to motor development. in general it is inherited in autosomal recessive principles, however in the western world mostly seen with de novo dominant mutations in the collagen vi genes. milder form of the condition is the bethlem myopathy. there may be overlap ...
متن کاملCyclosporine A in Ullrich Congenital Muscular Dystrophy: Long-Term Results
Six individuals with Ullrich congenital muscular dystrophy (UCMD) and mutations in the genes-encoding collagen VI, aging 5-9, received 3-5 mg/kg of cyclosporine A (CsA) daily for 1 to 3.2 years. The primary outcome measure was the muscle strength evaluated with a myometer and expressed as megalimbs. The megalimbs score showed significant improvement (P = 0.01) in 5 of the 6 patients. Motor func...
متن کاملUllrich congenital muscular dystrophy: report of nine cases from India.
BACKGROUND Ullrich congenital muscular dystrophy (UCMD) is a unique congenital disorder characterized clinically by generalized muscle weakness, contractures of the proximal joints and hyperextensibility of the distal joints and begins from birth or early infancy. MATERIALS AND METHODS We prospectively evaluated nine cases of classical UCMD and recorded the clinical phenotypic characteristics...
متن کاملA Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: BMC Neurology
سال: 2021
ISSN: 1471-2377
DOI: 10.1186/s12883-021-02134-7