The onset of symptoms was often characterized by difficulty in walking or climbing stairs, collected by a standard LGMD questionnaire. Muscle MRI was done 1.5 Tesla Philips apparatus using Mercuri score. The assessment of Quality of Life(QoL) was done in the mother of Hungarian family by an Individualized Neuromuscular Quality of Life(INQoL) test.

In the Italo-Spanish family, the mutation was identified in a single nucleotide deletion (c.2771delA,p.X924C,exon22) in the TNPO3 gene while in Hungarian family the causative mutation of LGMD D2 is due to a heterozygous frameshift deletion c.2767delC. in exon 23. The age of onset in our cases was either in the early teens or from the third decade. Mother and daughter of Italian-Spanish family presented marked atrophy of upper girdle muscles. The child of Hungarian family and his mother presented difficulty to stand from the floor. Muscle MRI showed pronounced atrophy in posterior thigh muscles of daughter and mother of Italo-Spanish family. Son and mother of Hungarian family showed generalized muscle atrophy. We observed that with age progression, connective and fat tissue increased, involving posterior thigh (i.e. semitendinosus) muscles.

Data derived from longitudinal MRI study in two patients of a previously reported family and, two cases of a new family confirm two patterns of early onset and a late onset a proximal muscle involvement. Child onset cases suggest screening for TPNO3 gene cases of congenital myopathies