Author/Editor		Meznarič-Petruša, M; Zidar, J; Fanin, M; Angelini, C
Title		11-year clinical follow-up of a patient with dysferlinopathy - report on the first diagnosed Slovenian case
Type		članek
Source		Medicon 2001. 9th Mediterranean conference on medical and biological engineering and computing. 2nd Croatian-Slovenian meeting on biomedical engineering. 1st international conference on muscle fibre structure and function. 5th symposium of Croatian society for medical informatics (Medicine informatics 2001). Proccedings of the International federation for medical and biological engineering. Part 1, Part 2; 2001 Jun 12-15; Pula
Publication year		2001
Volume		str. 1109-11
Language		eng
Abstract		Dysferlin is a novel muscle sarcolemmal protein. Its deficiency leads to several disease phenotypes of which Miyoshi myopathy and limbgirdle muscular dystrophy 2B (LGMD2B) are the more frequent. We report on a 34-year old sporadic male patient who presented with lower leg myopathy (typical feature of Miyoshi myopathy) at the age of 20 years. At presentation he was unable to walk on his toes, the CK activity was 30 times higher than normal, EMG and muscle biopsy findings were myopathic, the latter with mononuclear cellular infiltration. The diagnosis of dysferlinopathy was made by Western blotting where absence of dysferlin was found. During the 11-year follow-up period muscle weakness progressed and spread to the thigh, pelvic, and trunk muscles. Four years after presentation he used Gowers' manoeuvre to raise from the floor and completely lost this ability seven years later. At this time he could still walk independently but had no definite upper limb weakness. Clinical evolution of the disease was in our patient rather slow and typical for Miyoshi myopathy.
Descriptors		MUSCULAR DYSTROPHY ADULT ELECTROMYOGRAPHY BLOTTING, WESTERN MUSCLE WEAKNESS CREATINE KINASE FOLLOW-UP STUDIES