Polyneuropathie 1 (LPN1) - Leonberger Searchterm Acral mutilation syndrome (AMS) is

Acral mutilation syndrome (AMS) is a neurological disease characterized by insensitivity to pain in peripheral parts of the body (limbs

Schwierigkeiten beim Stehen und Gehen in einer geraden Linie

Due to severe clinical phenotype and symptoms

uterine body

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Polyneuropathie 1 (LPN1) - Leonberger Searchterm Acral mutilation syndrome (AMS) isLeonberger Polyneuropathy 1 (LPN1) is a polyneuropathy condition (PN) that is associated with a mutation in ARHGEF10 gene. A loss of function of the gene may lead to the loss of proper nerve signalling. Polyneuropathy can display a wide range of age of onset and may appear due to the mutations in other genes (GJA9, NDRG1) with a different mode of inheritance. Clinical signs include generalized weakness, hypotonia, muscle atrophy secondary to