METABOLIC MYOPATHIES

[1] ANDERSON L, 1986, MUSCLE NERVE, V9, P232

[2] CHARACTERIZATION OF MOLECULAR DEFECT IN INFANTILE AND ADULT ACID ALPHA-GLUCOSIDASE DEFICIENCY FIBROBLASTS [J]. JOURNAL OF CLINICAL INVESTIGATION, 1978, 62 (06) : 1264 - 1274

[3] ASSIGNMENT OF 3 HUMAN GENES TO CHROMOSOMES (LDH-A TO 11, TK TO 17, AND IDH TO 20) AND EVIDENCE FOR TRANSLOCATION BETWEEN HUMAN AND MOUSE CHROMOSOMES IN SOMATIC CELL HYBRIDS [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1972, 69 (02) : 510 - &

[4] MITOCHONDRIAL CYTOCHROME DEFICIENCY PRESENTING AS A MYOPATHY WITH HYPOTONIA, EXTERNAL OPHTHALMOPLEGIA, AND LACTIC-ACIDOSIS IN AN INFANT AND AS FATAL HEPATOPATHY IN A 2ND COUSIN [J]. ANNALS OF NEUROLOGY, 1983, 14 (04) : 462 - 470

[5] FATAL INFANTILE CYTOCHROME-C OXIDASE DEFICIENCY - DECREASE OF IMMUNOLOGICALLY DETECTABLE ENZYME IN MUSCLE [J]. NEUROLOGY, 1985, 35 (06) : 802 - 812

[6] STRUCTURE OF CYTOCHROME-C OXIDASE [J]. BIOCHIMICA ET BIOPHYSICA ACTA, 1983, 726 (02) : 135 - 148

[7] CHEN SH, 1971, AM J HUM GENET, V23, P87

[8] CHEN SH, 1972, AM J HUM GENET, V24, P229

[9] CONGENITAL MYOPATHY DUE TO PHOSPHORYLASE-DEFICIENCY [J]. NEUROLOGY, 1983, 33 (10) : 1383 - 1385

[10] DANCONA GG, 1979, P NATL ACAD SCI USA, V76, P4526, DOI 10.1073/pnas.76.9.4526

[1] ANDERSON L, 1986, MUSCLE NERVE, V9, P232

[2] CHARACTERIZATION OF MOLECULAR DEFECT IN INFANTILE AND ADULT ACID ALPHA-GLUCOSIDASE DEFICIENCY FIBROBLASTS [J]. JOURNAL OF CLINICAL INVESTIGATION, 1978, 62 (06) : 1264 - 1274

[3] ASSIGNMENT OF 3 HUMAN GENES TO CHROMOSOMES (LDH-A TO 11, TK TO 17, AND IDH TO 20) AND EVIDENCE FOR TRANSLOCATION BETWEEN HUMAN AND MOUSE CHROMOSOMES IN SOMATIC CELL HYBRIDS [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1972, 69 (02) : 510 - &

[4] MITOCHONDRIAL CYTOCHROME DEFICIENCY PRESENTING AS A MYOPATHY WITH HYPOTONIA, EXTERNAL OPHTHALMOPLEGIA, AND LACTIC-ACIDOSIS IN AN INFANT AND AS FATAL HEPATOPATHY IN A 2ND COUSIN [J]. ANNALS OF NEUROLOGY, 1983, 14 (04) : 462 - 470

[5] FATAL INFANTILE CYTOCHROME-C OXIDASE DEFICIENCY - DECREASE OF IMMUNOLOGICALLY DETECTABLE ENZYME IN MUSCLE [J]. NEUROLOGY, 1985, 35 (06) : 802 - 812

[6] STRUCTURE OF CYTOCHROME-C OXIDASE [J]. BIOCHIMICA ET BIOPHYSICA ACTA, 1983, 726 (02) : 135 - 148

[7] CHEN SH, 1971, AM J HUM GENET, V23, P87

[8] CHEN SH, 1972, AM J HUM GENET, V24, P229

[9] CONGENITAL MYOPATHY DUE TO PHOSPHORYLASE-DEFICIENCY [J]. NEUROLOGY, 1983, 33 (10) : 1383 - 1385

[10] DANCONA GG, 1979, P NATL ACAD SCI USA, V76, P4526, DOI 10.1073/pnas.76.9.4526