Muscular dystrophy due to a deficit of γ-sarcoglycan. A report of three patients with the Δ-521T mutation;Distrofia muscular por déficit de γ-sarcoglicano. Aportación de tres pacientes con la mutación Δ-521T

Revista de Neurologia

Volumn 34, Issue 5, 2002, Pages 486-489

  Eiris Punal J ^a   Pintos Martinez E ^a   Lasa, A ^a   Gallano, P ^a   Castro Gago, M ^a  

^a University Hospital of Santiago de Compostela   (Spain)

Author keywords

521T deletion; Limb girdle muscular dystrophy; Protein complex associated with dystrophin; Sarcoglycan complex; sarcoglicanopathy

Indexed keywords

GAMMA SARCOGLYCAN; SARCOGLYCAN; UNCLASSIFIED DRUG; CYTOSKELETON PROTEIN; DYSTROPHIN; MEMBRANE PROTEIN;

AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHROMOSOME 13Q; CLINICAL FEATURE; CONFERENCE PAPER; DIAGNOSTIC ACCURACY; DIFFERENTIAL DIAGNOSIS; DUCHENNE MUSCULAR DYSTROPHY; EVALUATION; FEMALE; FOLLOW UP; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HOMOZYGOTE; HUMAN; IMMUNOHISTOCHEMISTRY; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MISSENSE MUTATION; PRESCHOOL CHILD; PROTEIN DEFICIENCY; PROTEIN STRUCTURE; SPAIN; SYMPTOM; ADOLESCENT; ADULT; ARTICLE; CHILD; GENETICS; METABOLISM; MUSCULAR DYSTROPHY; MUTATION; PATHOLOGY; SKELETAL MUSCLE;

ADOLESCENT; ADULT; CHILD; CYTOSKELETAL PROTEINS; DYSTROPHIN; FEMALE; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION; SARCOGLYCANS; SPAIN;

EID: 2242438922     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.3405.2001160     Document Type: Conference Paper

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