Neuromuscular Diseases – آزمایش‌های فعال آزمایشگاه تشخیص طبی و تخصصی پیوند

Malignant Hyperthermia Susceptibility (2 genes)

Muscle Diseases > Muscle Weakness (Myopathy, Muscular Dystrophy) (179 genes)

Muscle Disease with FSHD Phenocopies(5 genes)

Mitochondrial Encephalopathy (131 genes)

Muscle Diseases > Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy

Muscle Disease with Ptosis / External Ophthalmoplegia (26 genes)

Mitochondrial Encephalopathy / Leigh Syndrome – Basic Diagnostics(33 genes)

Muscle Diseases > Newborn: “Floppy Infant“ (73 genes)

Muscle Disease with CNS Involvement (26 genes)

Mitochondrial Hepato (encephalo) pathy & Phenocopies (15 genes)

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