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Ullrich congenital muscular dystrophy (UCMD), due to mutations in the collagen VI genes, is an autosomal recessive form of CMD, commonly associated with distal joints hyperlaxity and severe course. A mild or moderate involvement can be occasionally observ e d . Objective: To evaluate the clinical picture of CMD patients with Ullrich phenotype who presented decreased or absent collagen VI immunoreactivity on muscular biopsy. Results: Among 60 patients with CMD, two had no expression of collagen V and their clinical involvement was essentially diff e rent: the first (3 years of follow-up) has mild motor difficulty ; the second (8 years of follow-up) never acquired walking and depends on ventilatory support. A molecular stu- d y, perf o rmed by Pan et al. at the Thomas Jefferson University, demonstrated in the first a known mutation of Bethlem myopathy in COL6A1 and in the second the first dominantly acting mutation in UCMD and the first in COL6A1, previously associated only to Bethlem myopathy, with benign course and dominant inher- i t a n c e . Conclusion: Bethlem myopathy should be considered in the diff e rential diagnosis of UCMD, even in patients without fingers contractures; overlap between Ullrich and Bethlem phenotypes can be supposed.

The congenital muscular dystrophies (CMD) are heterogeneous muscular diseases with early and dystrophic pattern on muscle biopsy. Many diff e rent subtypes have been genetically identified and most phenotypes not yet identified belong to the merosin-positive (MP) CMD subgro u p .Objective: To analyze the immunohistochemical expression of the main proteins of the dystro p h i n - g l y c o p roteins associa- ted complex in muscle biopsy of patients with diff e rent CMD phenotypes, for investigating a possible corre- lation with clinical and histopathological data.Method: Fifty-nine patients with CMD had clinical, histo- pathological and immunohistochemical data evaluated: 32 had MP-CMD, 23 CMD with merosin deficien- cy (MD-CMD), one Ullrich phenotype and three Wa l k e r- Wa r b u rg disease.Results: D y s t rophin and dysfer- lin were normal in all; among the patients with MD-CMD, merosin deficiency was partial in nine who sho- wed the same clinical severity as those with total deficiency; the reduced expression of α- s a rcoglycan (SG) and α- d y s t roglycan (DG) showed statistically significant correlation with severe MD-CMD phenotype.C o n- c l u s i o n :T h e re is a greater relationship between merosin and the former proteins; among MP-CMD patients, no remarkable immunohistochemical/phenotypical correlations were found, although the reduced expre s- sion of β-DG had showed statistically significant correlation with severe phenotype and marked fibro s i s on muscular biopsy.