PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry

Neurology: Genetics

Volumn 1, Issue 1, 2015, Pages

  Auranen, Mari ^a   Palmio, Johanna ^b   Ylikallio, Emil ^a   Huovinen, Sanna ^b   Paetau, Anders ^a   Sandell, Satu ^b,c   Haapasalo, Hannu ^b   Viitaniemi, Kati ^b   Piirilä, Päivi ^d   Tyynismaa, Henna ^a   Udd, Bjarne ^b  

^a UNIVERSITY OF HELSINKI   (Finland)

^b TAMPERE UNIVERSITY HOSPITAL   (Finland)

^c SEINÄJOKI CENTRAL HOSPITAL   (Finland)

^d HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

6 PHOSPHOFRUCTOKINASE; GLYCOGEN; GLYCOGEN PHOSPHORYLASE; PHOSPHOTRANSFERASE; PROTEASOME;

ADULT; ARTICLE; AUTOPHAGOSOME; CASE REPORT; ELECTROMYOGRAM; ENDOPLASMIC RETICULUM ASSOCIATED DEGRADATION; ENZYME ACTIVITY; ENZYME HISTOCHEMISTRY; EXERCISE TEST; EXERCISE TOLERANCE; EXOME; FEMALE; GENE SEQUENCE; GLYCOGEN STORAGE DISEASE TYPE 7; HOMOZYGOSITY; HUMAN; LABORATORY TEST; MALE; MIDDLE AGED; MOLECULAR GENETICS; MOTOR UNIT POTENTIAL; MUSCLE BIOPSY; MUSCLE CRAMP; MUSCLE WEAKNESS; MYALGIA; MYOGLOBINURIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN DEGRADATION; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; UPPER LIMB; VOMITING;

EID: 85027433446     PISSN: None     EISSN: 23767839     Source Type: Journal    
DOI: 10.1212/NXG.0000000000000007     Document Type: Article

References (11)

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