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UnknownClinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G.
Not available
S-EPMC6454397 | biostudies-literature
UnknownRecurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.
Not available
S-EPMC7306402 | biostudies-literature
UnknownThe UCMD-Causing <i>COL6A1</i> (<i>c</i>.930 + 189<i>C</i> > <i>T</i>) Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI <i>α</i>1 Chains.
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S-EPMC11919215 | biostudies-literature
UnknownDifferential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation.
Not available
S-EPMC11525221 | biostudies-literature
UnknownDifferential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation.
Not available
S-EPMC10996755 | biostudies-literature
UnknownHSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation.
Not available
S-EPMC5432370 | biostudies-literature
UnknownPeripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter.
Not available
S-EPMC5506493 | biostudies-literature
UnknownClinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications.
Not available
S-EPMC10876619 | biostudies-literature
UnknownEarly and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.
Not available
S-EPMC5562963 | biostudies-literature
UnknownThe Role of PIEZO2 in Human Mechanosensation.
Not available
S-EPMC5911918 | biostudies-literature
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