Central core disease and congenital neuromuscular disease with uniform type 1 fibers in one family

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

Kathleen A. Quane, Jasmine Healy, Katherine E. Keating et al. · Nature Genetics · 1993 · 354 citations

Life Sciences, Genetics, Molecular Genetics +11

A mutation in the human ryanodine receptor gene associated with central core disease

Yilin Zhang, Hai Shiene Chen, Vijay K. Khanna et al. · Nature Genetics · 1993 · 328 citations

Life Sciences, Genetics, Molecular Genetics +10

Congenital nonprogressive myopathy

Adel K. Afifi, James W. Smith, H Zellweger · Neurology · 1965 · 124 citations

FAMILIAL NON-PROGRESSIVE MYOPATHY WITH MUSCLE CRAMPS AFTER EXERCISE

J. Bethlem, J. van Gool, W.C. Hülsmann et al. · Brain · 1966 · 57 citations

Medicine, Neurology, Pathology +11

Nonprogressive Congenital Neuromuscular Disease With Uniform Type 1 Fiber

Shin J. Oh, M. J. Danon · Archives of Neurology · 1983 · 43 citations

Medicine, Neurology, Pediatrics +15