A missense mutation W797R in the myophosphorylase gene in a spanish patient with McARDLE'S disease

Muscle and Nerve

Volumn 23, Issue 1, 2000, Pages 129-131

  Rubio, Juan C ^a   Martín, Miguel A ^a   Campos, Yolanda ^a   Auciello, Raffaella ^a   Cabello, Ana ^a   Arenas, Joaquín ^a  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

Author keywords

Exercise intolerance; McArdle's disease; Molecular analysis; Myophosphorylase

Indexed keywords

GLYCOGEN PHOSPHORYLASE;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; EXERCISE TOLERANCE; GENE AMPLIFICATION; GENE EXPRESSION; GLYCOGEN STORAGE DISEASE TYPE 5; HUMAN; MALE; MISSENSE MUTATION; MUSCLE CRAMP; MYALGIA; MYOGLOBINURIA; PHYSICAL ACTIVITY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN ANALYSIS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ADULT; AMINO ACID SUBSTITUTION; DNA; EXONS; GLYCOGEN STORAGE DISEASE TYPE V; HUMANS; MALE; MUSCLE FATIGUE; MUSCLE, SKELETAL; MUTATION, MISSENSE; PHOSPHORYLASES; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 0033981195     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(200001)23:1<129::AID-MUS20>3.0.CO;2-F     Document Type: Article

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