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

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.

Muscle Biopsy: A Boon for Diagnosis of Mitochondrial Parkinsonism in Developing Countries.

Mitochondrial dysfunction plays an important role in the pathogenesis of Parkinson's disease. Primary genetic abnormalities in the mitochondrial DNA or nuclear DNA can cause parkinsonism. Mitochondrial parkinsonism presents with classical features of parkinsonism along with multisystem involvement. Genetic analysis is essential in reaching the diagnosis which is not always possible, especially in developing countries. Muscle biopsy can be a boon in this setting as exemplified in our report of two siblings where a diagnosis of mitochondrial parkinsonism was made on the basis of muscle biopsy.