Phenotype-genotype analysis of dystrophinopathy caused by duplication mutation in dystrophin gene in an African patient

African Health Sciences

Volumn 11, Issue 4, 2012, Pages 607-609

  Peddareddygari, L R ^a   Pillai, B H ^a   Nochlin, D ^b   Sharer, L R ^c   Grewal, R P ^d  

^a Neurogenetics Foundation   (United States)

^b New Jersey Neuroscience Institute   (United States)

^c RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

^d ST FRANCIS MEDICAL CENTER   (United States)

Author keywords

Duchenne muscular dystrophy; Exon 8 and 9 duplication; Genotype phenotype analysis

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CREATINE KINASE; DYSTROPHIN; GENOMIC DNA; UTROPHIN;

ARTICLE; BLOOD ANALYSIS; CASE REPORT; CHILD; DUCHENNE MUSCULAR DYSTROPHY; DYSTROPHIN GENE; DYSTROPHINOPATHY; EXON; FAMILY HISTORY; GENE; GENE DUPLICATION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; GHANA; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; MOTHER; MOTOR DYSFUNCTION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCLE BIOPSY; MUSCLE STRENGTH; NEGRO; NEUROLOGIC EXAMINATION; PATHOGENESIS; PROTEIN EXPRESSION; SCHOOL CHILD; VASTUS LATERALIS MUSCLE;

AFRICAN CONTINENTAL ANCESTRY GROUP; BIOPSY; CHILD; DNA MUTATIONAL ANALYSIS; DYSTROPHIN; EXONS; GENETIC ASSOCIATION STUDIES; GENOTYPE; GHANA; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MOTHERS; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION; PEDIGREE; PHENOTYPE;

EID: 84858684492     PISSN: 16806905     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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