Dusty core disease (DuCD) is a recently described form of congenital myopathy with clinicopathological implications. The presence of “dusty core fibers” is the defining myopathological feature of DuCD. Most cases… Click to show full abstract
Dusty core disease (DuCD) is a recently described form of congenital myopathy with clinicopathological implications. The presence of “dusty core fibers” is the defining myopathological feature of DuCD. Most cases have a recessive inheritance and harbor RYR1 mutations. I hereby describe a novel homozygous variant of RYR1 p.Ala3072Asp clinicopathologically compatible with DuCD. To the best of my knowledge, this is the first documented case of DuCD from India.
Keywords:
novel homozygous;
core disease;
ryr1;
dusty core;
clinicopathological implications;
core
Journal Title: Neuropathology
Year Published: 2020
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Journal Title: Neuropathology
Year Published: 2020
Link to full text (if available)
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recommendations!