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UnknownLimb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report.
Not available
S-EPMC6585112 | biostudies-literature
UnknownHereditary inclusion-body myopathy with sparing of the quadriceps: the many tiles of an incomplete puzzle.
Not available
S-EPMC3235839 | biostudies-literature
UnknownGenetic Counseling and NGS Screening for Recessive LGMD2A Families.
Not available
S-EPMC7349198 | biostudies-literature
UnknownDistribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).
Not available
S-EPMC10136686 | biostudies-literature
UnknownDigital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience.
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S-EPMC10360326 | biostudies-literature
UnknownIntegrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients.
Not available
S-EPMC11520157 | biostudies-literature
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