Background Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects both upper and lower motor neurons, disturbing communication between the brain and muscles. So far, few reports have been published for the SPG11 -associated ALS, and this is the first documented case from Pakistan. Methods We report a rare subtype of ALS with an autosomal recessive mode of inheritance with juvenile onset before 25 years...

Background Muscular dystrophies are a group of inherited neuromuscular disorders characterized by degenerative and progressive muscle weakness. Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and merosin-deficient congenital muscular dystrophy type 1 (MDC1A) are frequent forms caused by DMD (NM_004006.3) and LAMA2 (NM_000426.4) mutations, respectively. Methods and results Our study used whole exome sequencin...

Kutta is an indigenous sheep breed found in the mountainous region of Swat, Pakistan. In this study we evaluated the performance of Kutta sheep within their natural habitat and identified genomic regions associated with environmental adaptability using whole genome sequencing. Flocks are mostly managed under a transhumant production system with year-round breeding. Kutta sheep demonstrated higher lambing efficiency under the a...