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
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacher Str. 62
79106 Freiburg
- Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
- Emery-Dreifuss muscular dystrophy
- Duchenne muscular dystrophy
- Bulbospinal muscular atrophy
- Autosomal dominant slowed nerve conduction velocity
- Distal hereditary motor neuropathy type 1
- Amyotrophic lateral sclerosis
- Motor neuron disease
- Proximal spinal muscular atrophy
- Limb-girdle muscular dystrophy
- Spinocerebellar ataxia with axonal neuropathy type 1
- Muscular dystrophy
- Microcephaly-complex motor and sensory axonal neuropathy syndrome
- Becker muscular dystrophy
- Distal myopathy