Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures.

Human mutation

Volumn 26, Issue 3, 2005, Pages 279-280

  Kaindl, Angela M ^a   Jakubiczka, Sibylle ^a   Lücke, Thomas ^a   Bartsch, Oliver ^a   Weis, Joachim ^a   Stoltenburg Didinger, Gisela ^a   Aksu, Fuat ^a   Oexle, Konrad ^a   Koehler, Katrin ^a   Huebner, Angela ^a  

^a UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

SARCOGLYCAN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 4; CHROMOSOME DELETION; CONSANGUINITY; EXPRESSED SEQUENCE TAG; FEMALE; GENE DELETION; GENETIC MARKER; GENETICS; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; PEDIGREE; PHENOTYPE;

ADOLESCENT; ADULT; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 4; CONSANGUINITY; EXPRESSED SEQUENCE TAGS; FEMALE; GENE DELETION; GENETIC MARKERS; HUMANS; MALE; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; PEDIGREE; PHENOTYPE; SARCOGLYCANS;

EID: 30644476869     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9357     Document Type: Article

References (0)