Computational protocol: Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features – a case report

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Protocol publication

[…] The index case and her relatives underwent full neuromuscular assessment, and written informed consent for molecular genetic testing was obtained prior to genomic DNA purification from blood. Mutation screening of the proposita used an amplicon-based Sanger sequencing method focused on RYR1 (NM_000540), as reported []. We also used MotorPlex [], a targeted next-generation sequencing (NGS) panel, to investigate the coding regions of 92 genes responsible of non-syndromic muscle disorders. Variant annotation was performed as described [] and analyses of polymorphic human variations included dbSNP (, EVS6500 (, ClinVar (, ExAC Browser (, and 1000G dataset ( The damaging effects of the SNVs were evaluated in silico using Mutation Taster (, PolyPhen-2 (Polymorphism Phenotyping v2) (, SIFT (SIFT,, and PANTHER ( […]

Pipeline specifications

Software tools MutationTaster, PolyPhen, PANTHER
Application Protein sequence analysis
Diseases Muscular Diseases, Genetic Diseases, Inborn