TY - JOUR
T1 - Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred
AU - Toscano, Antonio
AU - Tsujino, Seiichi
AU - Vita, Giuseppe
AU - Shanske, Sara
AU - Messina, Corrado
AU - Dimauro, Salvatore
PY - 1996/9
Y1 - 1996/9
N2 - Human muscle phosphoglycerate mutase (PGAM-M) deficiency is associated with exercise intolerance, muscle cramps, chronic serum CK elevation, and recurrent episodes of myoglobinuria. Ten patients have been described: 7 African Americans, 1 African, and 2 Caucasians from the Italian kindred described here. Molecular genetic analysis has revealed three different mutations in the PGAM-M gene. The propositus of the italian family was homozygous for a unique point mutation at codon 90 in exon 1, a C-to-T transition converting an encoded arginine to tryptophan. His sister, who had similar complaints, was also homozygous for this mutation while the paternal grandfather, both parents, a brother and a nephew of the propositus were heterozygous for the mutation. Our studies exclude that PGAM-M deficiency is limited to African Americans, and suggest that the molecular heterogeneity of this rare disorder may be due to a 'founder effect' in different ethnic groups.
AB - Human muscle phosphoglycerate mutase (PGAM-M) deficiency is associated with exercise intolerance, muscle cramps, chronic serum CK elevation, and recurrent episodes of myoglobinuria. Ten patients have been described: 7 African Americans, 1 African, and 2 Caucasians from the Italian kindred described here. Molecular genetic analysis has revealed three different mutations in the PGAM-M gene. The propositus of the italian family was homozygous for a unique point mutation at codon 90 in exon 1, a C-to-T transition converting an encoded arginine to tryptophan. His sister, who had similar complaints, was also homozygous for this mutation while the paternal grandfather, both parents, a brother and a nephew of the propositus were heterozygous for the mutation. Our studies exclude that PGAM-M deficiency is limited to African Americans, and suggest that the molecular heterogeneity of this rare disorder may be due to a 'founder effect' in different ethnic groups.
KW - genetics
KW - myopathy
KW - PGAM-M deficiency
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U2 - 10.1002/(SICI)1097-4598(199609)19:9<1134::AID-MUS8>3.0.CO;2-0
DO - 10.1002/(SICI)1097-4598(199609)19:9<1134::AID-MUS8>3.0.CO;2-0
M3 - Article
C2 - 8761269
AN - SCOPUS:0029814303
VL - 19
SP - 1134
EP - 1137
JO - Muscle and Nerve
JF - Muscle and Nerve
SN - 0148-639X
IS - 9
ER -