Genetics and clinical characteristics of four ALMS patients studied.

The parameters were measured at the time of dermal biopsies. The age of first diagnosis of disease is reported in parenthesis.*The nomenclature was established according to den Dunnen et al.[29]; the number of the corresponding exon in which the mutation is localized is reported in parenthesis.**Elevation of transaminases or ultrasographic signs of liver steatosis.***Elevation of Blood Urea Nitrogen or creatinine or abnormal Glomerular Filtration Rate assessed by kidney scintigraphy.

所有检测参数均于皮肤活检时采集测定。疾病首次确诊年龄标注于括号内。
* 命名规范依据den Dunnen等人[29]的研究制定；突变所在的对应外显子(exon)编号标注于括号内。
** 转氨酶升高或肝脏脂肪变性的超声影像学征象。
*** 经肾显像评估的血尿素氮(Blood Urea Nitrogen)、肌酐(creatinine)升高或肾小球滤过率(Glomerular Filtration Rate)异常。