PTRH2 gene mutation causes progressive congenital skeletal muscle pathology. | Profiles RNS

RCMI Coordinating Center (RCMI CC)

PTRH2 gene mutation causes progressive congenital skeletal muscle pathology.

Doe J, Kaindl AM, Jijiwa M, de la Vega M, Hu H, Griffiths GS, Fontelonga TM, Barraza P, Cruz V, Van Ry P, Ramos JW, Burkin DJ, Matter ML. PTRH2 gene mutation causes progressive congenital skeletal muscle pathology. Hum Mol Genet. 2017 04 15; 26(8):1458-1464.

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Joe Ramos, PhD

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