A novel homozygous variant of RYR1 p.Ala3072Asp in a neonate with dusty core disease: A new entity with clinicopathological implications

BL Gaspar - Neuropathology, 2020 - Wiley Online Library
Dusty core disease (DuCD) is a recently described form of congenital myopathy with
clinicopathological implications. The presence of “dusty core fibers” is the defining …

A novel homozygous variant of RYR1 p. Ala3072Asp in a neonate with dusty core disease: A new entity with clinicopathological implications

BL Gaspar - 2020 - nextgenpathdiagnostics.org
Dusty core disease (DuCD) is a recently described form of congenital myopathy with
clinicopathological implications. The presence of “dusty core fibers” is the defining …

A novel homozygous variant of RYR1 p. Ala3072Asp in a neonate with dusty core disease: A new entity with clinicopathological implications.

BL Gaspar - Neuropathology, 2020 - search.ebscohost.com
Dusty core disease (DuCD) is a recently described form of congenital myopathy with
clinicopathological implications. The presence of" dusty core fibers" is the defining …

A novel homozygous variant of RYR1 p. Ala3072Asp in a neonate with dusty core disease: A new entity with clinicopathological implications

BL Gaspar - 2020 - nextgenpathdiagnostics.org
Dusty core disease (DuCD) is a recently described form of congenital myopathy with
clinicopathological implications. The presence of “dusty core fibers” is the defining …

A novel homozygous variant of RYR1 p. Ala3072Asp in a neonate with dusty core disease: A new entity with clinicopathological implications.

BL Gaspar - Neuropathology: Official Journal of the Japanese …, 2020 - europepmc.org
Dusty core disease (DuCD) is a recently described form of congenital myopathy with
clinicopathological implications. The presence of" dusty core fibers" is the defining …

A novel homozygous variant of RYR1 p. Ala3072Asp in a neonate with dusty core disease: A new entity with clinicopathological implications

BL Gaspar - … : official journal of the Japanese Society of …, 2020 - pubmed.ncbi.nlm.nih.gov
Dusty core disease (DuCD) is a recently described form of congenital myopathy with
clinicopathological implications. The presence of" dusty core fibers" is the defining …

A novel homozygous variant of RYR1 p. Ala3072Asp in a neonate with dusty core disease: A new entity with clinicopathological implications

BL Gaspar - 2020 - nextgenpathdiagnostics.org
Dusty core disease (DuCD) is a recently described form of congenital myopathy with
clinicopathological implications. The presence of “dusty core fibers” is the defining …