Glycogen storage disease VII

OMIM:232800
Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease

Mutations

Gene Symbol	PFKM
Reference transcript	NM_001166688.1
DNA Change	c.165T>A
A.A. Change	p.Tyr55X
Exon/Intron	exon 4
Mutation Type	substitution
Reference	Malfatti E, Birouk N, Romero NB, Piraud M, Petit FM, Hogrel JY, Laforet P.Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency. J Neurol Sci. 2012 May 15;316(1-2):173-7.

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