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UnknownMuscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
Not available
S-EPMC5061416 | biostudies-literature
UnknownISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan.
Not available
S-EPMC4873967 | biostudies-literature
UnknownA National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.
Not available
S-EPMC6460575 | biostudies-literature
UnknownIdentification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
Not available
S-EPMC3516603 | biostudies-literature
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