Muscle MRI Pattern in Dysferlinopathy and its Correlation with Dysferlin Gait.

Background And Objectives: Magnetic resonance imaging (MRI) in dysferlinopathy has consistently demonstrated a particular pattern of affliction. We aimed to study muscle MRI characteristics of lower limbs in limb girdle muscular dystrophy (LGMD)-R2 phenotypes and correlate them with the gait pattern.

Methods: Forty genetically and/or biopsy-proven cases of dysferlinopathy underwent muscle MRI of the lower limbs.

MICU1 related myopathy - a rare report from India.

Mitochondrial Calcium Uptake 1 () is an important component of mitochondrial calcium channel regulator. Mutations in result in a rare syndrome of myopathy with extrapyramidal features. Here we report a rare case of related myopathy from India.

Prediction of meningioma subtypes using qualitative assessment of fractional anisotropy maps.

Aim: In this study, we explore the role of FA maps in predicting the histopathological subtypes of meningioma using a qualitative ordinal scale and quantitative histogram features.

Material & Methods: Retrospective analysis of grey-scale FA maps of 96 cases of meningioma was done by two observers blinded to the histopathological diagnosis. An ordinal scale of 1-4 was used to grade the degree of FA in each lesion.

A human induced pluripotent stem cell line, NIMHi016-A, established from fibroblasts of a neuromuscular disease patient carrying PGK1/p. Asn5Lys variant.

PGK1 (phosphoglycerate kinase-1) is required for ATP production in the body. Mutation in the PGK1 gene causes a rare, inherited metabolic disorder causing deficiency of enzyme PGK1, leading to hemolytic anemia, neurological symptoms, and muscle weakness. We generated induced pluripotent stem cells (iPSCs) from a patient carrying a PGK1 variant by isolating fibroblasts from skin punch biopsy and reprogramming using CytoTune iPS 2.