Severe early-onset axonal neuropathy due to MFN2 deficiency
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Zentrum für neuromuskuläre Erkrankungen im Kindesalter am Universitätsklinikum Freiburg
Zentrum für neuromuskuläre Erkrankungen im Kindesalter am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
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79106 Freiburg
- Muscular dystrophy
- Bulbospinal muscular atrophy
- Autosomal dominant slowed nerve conduction velocity
- Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
- Motor neuron disease
- Distal myopathy
- Emery-Dreifuss muscular dystrophy
- Becker muscular dystrophy
- Microcephaly-complex motor and sensory axonal neuropathy syndrome
- Proximal spinal muscular atrophy
- Limb-girdle muscular dystrophy
- Spinocerebellar ataxia with axonal neuropathy type 1
- Amyotrophic lateral sclerosis
- Distal hereditary motor neuropathy type 1
- Duchenne muscular dystrophy