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Summary
GLYCOGEN STORAGE DISEASE TYPE X
GSD10
261670
OMIM = Online Medalian Inheritance of Men
97234
7p13
rare
autosomal recessive
symptoms
exercise intolerance
muscle cramps
muscle weakness
onset, adolescent
onset, childhood
pain, muscle
renal failure, acute/chronic
rhabdomyolysis
laboratory finding
Creatine kinase increasedplasma
Glycogen normal-increasedmuscle
Myoglobin normal-increasedurine
Phosphoglycerate mutase 2 decreased activitymuscle
Literature
zur Stadt Uet al.Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11Hum Mol Genet146827-8342005
Ouach+®e-Chardin Met al.Hematopoietic stem cell transplantation in hemophagocytic lymphohistiocytosis: a single-center report of 48 patientsPediatrics1174e743-7502006
Bzduch VBehulova D, Kozak LSacral dimple as a skin manifestation of the Smith-Lemli-Opitz syndromeJ Inher Met Dis300269-2702007
Janka GZur Stadt UFamilial and acquired hemophagocytic lymphohistiocytosisHematology Am Soc Hematol Educ Program0082-882005