Absence of γ-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12
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چکیده
منابع مشابه
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).
Sarcoglycanopathies are a genetically heterogeneous group of autosomal recessive muscular dystrophies in which the primary defect may reside in any of the genes coding for the different partners of the sarcolemmal sarcoglycan (SG) complex: the alpha-SG (LGMD2D at 17q21.2), the beta-SG (LGMD2E at 4q12), the gamma-SG (LGMD2C at 13q12), and the delta-SG (LGMD2F at 5q33). We report a series of 20 n...
متن کاملΓ-sarcoglycan Deficiency Muscular Dystrophy in Two Adults
Department of Pediatric Neurology, Chang Gung Children’s Hospital, Taoyuan; and Department of Neurology, Chang Gung Memorial Hospital at Linkou, Chang Gung University, Taoyuan. Received: 29 November 1999. Revised: 30 December 1999. Accepted: 7 March 2000. Reprint requests and correspondence to: Dr. Long-Sun Ro, Department of Neurology, Chang Gung Memorial Hospital, and Chang Gung University, 19...
متن کاملSevere childhood autosomal recessive muscular dystrophy, mental subnormality and chorea.
Severe childhood autosomal recessive muscular dystrophy (SCARMD) is characterized by a severe Duchene muscular dystrophy like phenotype. Most such cases represent alpha or gamma sarcoglycanopathies. Mental subnormality is very uncommon and other central nervous system deficits have not been documented in patients with SCARMD. We report a brother and sister with the SCARMD phenotype, who additio...
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To enhance our understanding of the autosomal recessive limb-girdle muscular dystrophy (LGMD), patients from six genetically distinct forms (LGMD2A to LGMD2F) were studied with antibodies directed against four sarcoglycan subunits (alpha-, beta-, gamma-, delta-SG), dystrophin, beta-dystroglycan (beta-DG) and merosin. All patients with LGMD2A and 2B had a mild clinical course while those with a ...
متن کاملX chromosome-linked muscular dystrophy (mdx) in the mouse.
An X chromosome-linked mouse mutant (gene symbol, mdx) has been found that has elevated plasma levels of muscle creatine kinase and pyruvate kinase and exhibits histological lesions characteristic of muscular dystrophy. The mutants show mild clinical symptoms and are viable and fertile. Linkage analysis with four X chromosome loci indicates that mdx maps in the Hq Bpa region of the mouse X chro...
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ژورنال
عنوان ژورنال: FEBS Letters
سال: 1996
ISSN: 0014-5793
DOI: 10.1016/0014-5793(96)00056-7