{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Aleem T"],"funding":["RCUK | MRC | Medical Research Foundation","Higher Education Commission, Pakistan","Higher Education Commission, Pakistan (HEC)"],"pagination":["1264-1270"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12480867"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["33(10)"],"pubmed_abstract":["Neuromuscular disorders comprise the majority of neurogenetic conditions, generally characterized by overlapping clinical symptoms, such as spastic paraplegia, muscular abnormalities, and ataxia. In low- and middle-income countries (LMICs), many patients remain undiagnosed or are misdiagnosed. For many NMDs, early diagnosis helps reduce the impact and mortality of the disorder, particularly in LMICs such as Pakistan, and reduces the burden on the healthcare system. The aim of this study was to use exome sequencing as a first line of diagnostic approach to identify the cause of disease. Here, we present five consanguineous families from different remote villages in Pakistan with an undiagnosed neuromuscular disorder, in whom whole-exome sequencing was able to provide a diagnosis. We identif"],"journal":["European journal of human genetics : EJHG"],"pubmed_title":["Exome sequencing reveals broad genetic heterogeneity for neuromuscular disorders in consanguineous Pakistani Families."],"pmcid":["PMC12480867"],"funding_grant_id":["15309","MR/T02044X/1"],"pubmed_authors":["Asif MF","Malik NA","Tariq M","Poulter JA","Rashid M","Aleem T","Ahmad N"],"additional_accession":[]},"is_claimable":false,"name":"Exome sequencing reveals broad genetic heterogeneity for neuromuscular disorders in consanguineous Pakistani Families.","description":"Neuromuscular disorders comprise the majority of neurogenetic conditions, generally characterized by overlapping clinical symptoms, such as spastic paraplegia, muscular abnormalities, and ataxia. In low- and middle-income countries (LMICs), many patients remain undiagnosed or are misdiagnosed. For many NMDs, early diagnosis helps reduce the impact and mortality of the disorder, particularly in LMICs such as Pakistan, and reduces the burden on the healthcare system. The aim of this study was to use exome sequencing as a first line of diagnostic approach to identify the cause of disease. Here, we present five consanguineous families from different remote villages in Pakistan with an undiagnosed neuromuscular disorder, in whom whole-exome sequencing was able to provide a diagnosis. We identif","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Oct","modification":"2026-06-04T01:36:21.615Z","creation":"2026-05-04T03:12:34.82Z"},"accession":"S-EPMC12480867","cross_references":{"pubmed":["40730687"],"doi":["10.1038/s41431-025-01915-9"]}}