We report on a German family presenting with a predominantly distal myopathy 
primarily affecting anterior compartments of lower legs in childhood. Proximal 
lower limb and hip girdle weakness developed later in early adulthood in the 
female index patient and likewise in her mother. Consecutive muscle biopsy 
findings were first attributed to a mild congenital myopathy and later on 
interpreted as neurogenic changes without clear signs of a myopathy. Molecular 
genetic analysis was performed because of the clinical impression of a distal 
myopathy combined with dominant inheritance. The heterozygous mutation c.349G>A 
(p.D117N) in the ZASP gene could be found. This mutation had been previously 
associated with an adult-onset, isolated, dilated left ventricular 
non-compaction cardiomyopathy (OMIM*605906.0007), which was not present in our 
patients. Our data show that this mutation can be associated with an isolated 
skeletal muscle phenotype. Second, mutation analysis of the ZASP gene is 
suggested for distal myopathies of any age, even in cases of uncharacteristic 
muscle biopsy findings on routine analysis.