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