Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred

Muscle and Nerve

Volumn 19, Issue 9, 1996, Pages 1134-1137

  Toscano, Antonio ^a,c   Tsujino, Seiichi ^b   Vita, Giuseppe ^a   Shanske, Sara ^b   Messina, Corrado ^a   Dimauro, Salvatore ^b  

^a UNIVERSITY OF MESSINA   (Italy)

^b Department of Orthopaedic Surgery   (United States)

^c UNIVERSITY OF MESSINA   (Italy)

Author keywords

genetics; myopathy; PGAM M deficiency

Indexed keywords

CREATINE KINASE; PHOSPHOGLYCERATE MUTASE;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CODON; CREATINE KINASE BLOOD LEVEL; ENZYME DEFICIENCY; ETHNIC GROUP; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; MUSCLE CRAMP; MYOGLOBINURIA; POINT MUTATION; PRIORITY JOURNAL; SCHOOL CHILD;

ADULT; AGED; BASE SEQUENCE; CHILD; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; ITALY; MALE; MIDDLE AGED; MOLECULAR PROBES; MOLECULAR SEQUENCE DATA; MUSCLES; PEDIGREE; PHOSPHOGLYCERATE MUTASE; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 0029814303     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(199609)19:9<1134::AID-MUS8>3.0.CO;2-0     Document Type: Article

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