Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy

Brain

Volumn 119, Issue 6, 1996, Pages 1895-1909

  Illarioshkin, S N ^a,b,c   Ivanova Smolenskaya, I A ^b   Tanaka, H ^a   Vereshchagin, N V ^b   Markova, E D ^b   Poleshchuk, V V ^b   Lozhnikova, S M ^c   Sukhorukov, V S ^d   Limborska, S A ^e   Slominsky, P A ^e   Bulayeva, K B ^f   Tsuji, S ^a  

^a NIIGATA UNIVERSITY   (Japan)

^b INSTITUTE OF BIOMEDICAL CHEMISTRY   (Russian Federation)

^c RESEARCH CENTER OF NEUROLOGY   (Russian Federation)

^d PIROGOV RUSSIAN NATIONAL RESEARCH MEDICAL UNIVERSITY   (Russian Federation)

^e INSTITUTE OF MOLECULAR GENETICS   (Russian Federation)

^f VAVILOV INSTITUTE OF GENERAL GENETICS   (Russian Federation)

Author keywords

Autosomal recessive muscular dystrophy; Chromosome 2p; Clinical phenotypes; Linkage analysis; Molecular genetics

Indexed keywords

DYSTROPHIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 2P; CONSANGUINITY; DUCHENNE MUSCULAR DYSTROPHY; FAMILY STUDY; FEMALE; GASTROCNEMIUS MUSCLE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; MUSCLE BIOPSY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; PROGRESSIVE MUSCULAR DYSTROPHY; RUSSIAN FEDERATION; SCHOOL CHILD; SIBLING;

ADOLESCENT; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; DYSTROPHIN; FEMALE; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); MALE; MUSCULAR DYSTROPHIES; PEDIGREE; PHENOTYPE;

EID: 12644258539     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/119.6.1895     Document Type: Article

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