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