McArdle disease: A novel mutation in Jewish families from the Caucasus region

Author:

Haimi Cohen Yishai,Shalva Nechama,Markus-Eidlitz Tal,Sadeh Menachem,Dabby Ron,Weintraub Yael,Pode-Shakked Ben,Zeharia Avraham,Anikster Yair

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference17 articles.

1. Metabolic disorders affecting muscle; nonlysosomal glucogenoses;DiMauro,2004

2. Permanent muscle weakness in patients with McArdle disease;Nadaj-Pakleza;Muscle Nerve,2009

3. Late-onset type of skeletal muscle phosphorylase deficiency. A new familial variety with completely and partially affected subjects;Engel;N. Engl. J. Med.,1963

4. Fatal infantile form of muscle myophosphorylase deficiency;DiMauro;Neurology,1978

5. Fatal infantile muscle phosphorylase deficiency;Milstein;J. Child Neurol.,1989

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